GCM1 glial cells missing homolog 1 (Drosophila) [Homo sapiens] - Gene

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Summary

Official Symbol: GCM1provided by HGNC
Official Full Name: glial cells missing homolog 1 (Drosophila)provided by HGNC
Primary source: HGNC:4197
See related: Ensembl:ENSG00000137270; HPRD:04757; MIM:603715; Vega:OTTHUMG00000014871
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GCMA; hGCMa
Summary: This gene encodes a DNA-binding protein with a gcm-motif (glial cell missing motif). The encoded protein is a homolog of the Drosophila glial cells missing gene (gcm). This protein binds to the GCM-motif (A/G)CCCGCAT, a novel sequence among known targets of DNA-binding proteins. The N-terminal DNA-binding domain confers the unique DNA-binding activity of this protein. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 6p12.1

Sequence :: Chromosome: 6; NC_000006.11 (52991759..53013624, complement)

See GCM1 in Epigenomics, MapViewer

Chromosome 6 - NC_000006.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Data show that beta-catenin/BCL9-Like (BCL9L)/T-cell factor 4 (TCF4) signalling directly targets the GCM1/syncytin pathway and thereby regulates the fusion of human choriocarcinoma cells.
Title: Identification of a link between Wnt/β-catenin signalling and the cell fusion pathway.
results support a role for reduced placental Gcm1 expression as a causative factor in defective syncytiotrophoblast differentiation and maternal and placental phenotypes in preeclampsia in humans.
Title: Effects of reduced Gcm1 expression on trophoblast morphology, fetoplacental vascularity, and pregnancy outcomes in mice.
these data demonstrate for the first time that GCMa is phosphorylated by the PKC- and MEK/extracellular signal-regulated kinase (ERK)-dependent mechanism, and that this phosphorylation is involved in its degradation process.
Title: PMA induces GCMa phosphorylation and alters its stability via the PKC- and ERK-dependent pathway.
CD9 increases GCM1 expression via the cAMP/PKA signaling pathway, resulting in the increase in ERVWE1 expression.
Title: CD9 regulates transcription factor GCM1 and ERVWE1 expression through the cAMP/protein kinase A signaling pathway.
Our study has identi fi ed a novel cAMP/Epac1/CaMKI/GCM1 signaling cascade that stimulates trophoblast fusion through promoting GCM1 phosphorylation and desumoylation.
Title: A novel cyclic AMP/Epac1/CaMKI signaling cascade promotes GCM1 desumoylation and placental cell fusion.
TIMP4 is a downstream target of GCM1.
Title: Glial cell missing-1 mediates over-expression of tissue inhibitor of metalloproteinase-4 in severe pre-eclamptic placental villi.
Our results suggest that GCM1 is a critical factor in controlling placental cell fusion through transcriptional regulation of syncytin 2 and MFSD2A gene expression in placenta.
Title: GCM1 regulation of the expression of syncytin 2 and its cognate receptor MFSD2A in human placenta.
The researchers found evidence that GCM1 is a potential susceptibility or marker gene for IGA nephropathy.
Title: Parallel genotyping of 10,204 single nucleotide polymorphisms to screen for susceptible genes for IgA nephropathy.
Severe hypoxia is associated with reduced GCMa and syncytin-1 transcripts and altered fusion of primary trophoblasts.
Title: Syncytin-1 and glial cells missing a: hypoxia-induced deregulated gene expression along with disordered cell fusion in primary term human trophoblasts.
A central role for GCM1 protein in mediating the differentiation of trophoblast cells along both the villous and extravillous pathways in human placental development.
Title: Glial cell missing-1 transcription factor is required for the differentiation of the human trophoblast.

Submit: New GeneRIF Correction See all (22)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
Q9NP62	Q92793	CREBBP	HPRD	PubMed
Q9NP62	Q13547	HDAC1	HPRD	PubMed
Q9NP62	O15379	HDAC3	HPRD	PubMed
Q9NP62	P56524	HDAC4	HPRD	PubMed
Q9NP62	Q9UQL6	HDAC5	HPRD	PubMed
BioGRID:114093	BioGRID:114106	CAMK1	BioGRID	PubMed	Biochemical Activity
BioGRID:114093	BioGRID:107777	CREBBP	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity; Reconstituted Complex
BioGRID:114093	BioGRID:114032	CUL1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:114093	BioGRID:120275	DUSP23	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity; Reconstituted Complex
BioGRID:114093	BioGRID:117603	FBXW2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:114093	BioGRID:109315	HDAC1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:114093	BioGRID:114368	HDAC3	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:114093	BioGRID:115106	HDAC4	BioGRID	PubMed	Affinity Capture-Western
BioGRID:114093	BioGRID:115331	HDAC5	BioGRID	PubMed	Affinity Capture-Western
BioGRID:114093	BioGRID:118930	SENP1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:114093	BioGRID:112391	SKP1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:114093	BioGRID:113188	SUMO1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:114093	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-Western
BioGRID:114093	BioGRID:113177	UBE2I	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex

Function	Evidence Code	Pubs
DNA binding	IEA Inferred from Electronic Annotation more info
metal ion binding	IEA Inferred from Electronic Annotation more info
sequence-specific DNA binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
anatomical structure morphogenesis	TAS Traceable Author Statement more info	PubMed
astrocyte fate commitment	IEA Inferred from Electronic Annotation more info
branching involved in embryonic placenta morphogenesis	IEA Inferred from Electronic Annotation more info
cell differentiation involved in embryonic placenta development	IEA Inferred from Electronic Annotation more info
multicellular organismal development	IEA Inferred from Electronic Annotation more info
regulation of transcription, DNA-dependent	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
nucleus	IEA Inferred from Electronic Annotation more info
transcription factor complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: chorion-specific transcription factor GCMa

Names: chorion-specific transcription factor GCMa; GCM motif protein 1

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_003643.3 → NP_003634.2 chorion-specific transcription factor GCMa

Status: REVIEWED

Source sequence(s)

AB026493, AI219562, BC096288, BC096289, D88613

Consensus CDS

CCDS4950.1

UniProtKB/Swiss-Prot

Q9NP62

Related

ENSP00000259803, OTTHUMP00000016631, ENST00000259803, OTTHUMT00000040953

Conserved Domains (1) summary

pfam03615
Location:29 – 169
Blast Score: 748

GCM; GCM motif protein

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000006.11 Reference GRCh37.p5 Primary Assembly

Range

52991759..53013624, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000138.1 Alternate HuRef

Range

52823388..52845251, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AB041716.2	BAA94758.1
genomic	AB047819.1	BAB18039.1
genomic	AL512347.15 (49531..71396)	None
genomic	CH471081.1	EAX04412.1
mRNA	AB026493.1	BAA77250.2
mRNA	AB041714.1	BAA94757.1
mRNA	AI219562.1	None
mRNA	AK309881.1	None
mRNA	BC096288.1	AAH96288.1
mRNA	BC096289.1	None
mRNA	D88613.1	BAA13651.1